ESPE Abstracts

Introduction: HNF1B gene (OMIM*189907) encodes the transcription factor HNF1B, which is expressed early in embryogenesis, controls gene expression and is involved in multiple tissue and organ development. Mutations of HNF1B account for a complex disorder with multisystemic manifestations (Renal Cysts and Diabetes syndrome, OMIM #137920). Congenital urinary tract abnormalities and HNF1B MODY, a rare cause of diabetes mellitus (DM) (≤5% of M...

Abstract: Combined Pituitary Hormone Deficiency (CPHD) is characterized by growth hormone and at least one other pituitary hormone deficiency. It is of varying etiology, extent and severity and it usually occurs sporadically with only 10% of cases being familial. Although pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus and/or pituitary have been identified so far to cause genetic forms of CPHD, the aetiology...

Background: Kenny–Caffey syndrome 2 (KCS 2) is a rare cause of hypoparathyroidism, characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular long bones, delayed closure of anterior fontanel and eye abnormalities.Objective: We report the case of a 4-years’-old boy, who presented with the characteristic, and newly identified clinical, biochemical, radiological and genet...

Keywords: pediatric obesity, metabolic syndrome, dyslipidemia, abdominal obesity, cardiovascular risk.Introduction: The prevalence of pediatric obesity is rising globally as well as in Romania and so are the complications of obesity. Dyslipidemia is one of the most frequent complications and is associated with cardiovascular risk even in children or teenagers. Evaluating the degree of obesity and the correlations between...

Introduction: MIRAGE syndrome (Myelodysplasia, Infections, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, Enteropathy, OMIM# 617053), is a congenital disorder caused by heterozygous gain of function mutations in the growth repressor gene SAMD9, inherited autosomal dominantly, although de novo variants are often reported. The syndrome was first described in 2016 and to date various cases have been reported, presenting a wide sp...

Introduction: Paragangliomas are rare neuroendocrine neoplasms, that derive from the chromaffin cells of the neural crest. They originate from the extra-adrenal paraganglia and are divided into sympathetic and parasympathetic. They are classified into three different molecular clusters, depending on the underlying gene mutations, in any of at least 20 identified genes: cluster I Pseudo-hypoxia, cluster II Kinase signaling, cluster III Wnt signaling. Half of th...

Introduction: The increasing prevalence of pediatric obesity has led to a significant rise in the prescription of weight management medications. Between 2020 and 2035, the projected number of young people with overweight and obesity is expected to be 770 million, representing 39% of the global population, according to the World Obesity Atlas 2024. Glucagon-like peptide-1 (GLP-1) agonists, initially used for type 2 diabetes management, have shown promise in add...

Introduction: CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however the 85% of the cases remain with unknown aetiology. Whole Exome Sequencing (WES) enables parallel searching for pathogenic variants of CPHD in targeted known gene panels as well as the identifi...

Introduction: Autosomal dominant congenital hyperinsulinism (CH) is characterized by congenital hypoglycemia due to mutations in any of several genes including the glucokinase (GCK) gene. It is a rare disease with variable clinical symptoms mostly treated medically but in some cases requiring surgical intervention.Aim: We describe herein the clinical presentation and the genetic diagnosis of CH in two generations of an I...

Background: Tissue glucocorticoid sensitivity is characterized by a considerable variation in terms of therapeutic response and side effects to synthetic glucocorticoids. The multi-metabolite concentration profile measured by untargeted plasma metabolomics provides a comprehensive metabolic signature that might be used in clinical practice.Objective and Hypotheses: To investigate the usefulness of plasma metabolomics in identifying a metabolic signature ...